| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Cognitive impairment
Gait difficulties Bradykinesia Abnormal central motor function Global developmental delay Developmental delay/intellectual disability Muscular hypotonia Intellectual developmental disorder Spasticity Seizures Delayed speech and language development Show more (+8) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
No
|
Delayed speech and language development
Autonomic sign/sympt. Microcephaly Intellectual developmental disorder Gait difficulties Global developmental delay Abnormal central motor function Cognitive impairment Bradykinesia Muscular hypotonia Seizures Developmental delay/intellectual disability Spasticity Show more (+10) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
n.a.
|
5
|
n.a.
|
Delayed speech and language development
Muscular hypotonia Intellectual developmental disorder Developmental delay/intellectual disability Spasticity Abnormal central motor function Global developmental delay Cognitive impairment Gait difficulties Autonomic sign/sympt. Seizures Bradykinesia Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
21
|
No
|
Cognitive impairment
Gait difficulties Intellectual developmental disorder Dystonia (any or unspecified) Developmental delay/intellectual disability Abnormal central motor function Spasticity Muscular hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
7
|
n.a.
|
Muscular hypotonia
Dystonia (any or unspecified) Developmental delay/intellectual disability Intellectual developmental disorder Cognitive impairment Abnormal central motor function Spasticity Gait difficulties Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
1
|
No
|
Global developmental delay
Seizures Developmental delay/intellectual disability Muscular hypotonia Abnormal central motor function Bradykinesia Gait difficulties Spasticity Intellectual developmental disorder Delayed speech and language development Cognitive impairment Show more (+8) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
8
|
n.a.
|
Muscular hypotonia
Global developmental delay Abnormal central motor function Intellectual developmental disorder Delayed speech and language development Cognitive impairment Seizures Gait difficulties Autonomic sign/sympt. Bradykinesia Developmental delay/intellectual disability Spasticity Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
No
|
Developmental delay/intellectual disability
Global developmental delay Seizures Bradykinesia Microcephaly Intellectual developmental disorder Spasticity Abnormal central motor function Muscular hypotonia Delayed speech and language development Gait difficulties Cognitive impairment Show more (+9) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
No
|
Spasticity
Cognitive impairment Developmental delay/intellectual disability Delayed speech and language development Gait difficulties Abnormal central motor function Global developmental delay Seizures Microcephaly Bradykinesia Muscular hypotonia Intellectual developmental disorder Autonomic sign/sympt. Show more (+10) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Seizures
Abnormal central motor function Muscular hypotonia Developmental delay/intellectual disability Bradykinesia Delayed speech and language development Cognitive impairment Gait difficulties Intellectual developmental disorder Microcephaly Spasticity Global developmental delay Show more (+9) |
n.a.
|